Mariëtte J.V. Hoffer

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Karuna R. M. van der Meij, Erik A. Sistermans, Merryn Macville et al. · The American Journal of Human Genetics · 2019 · 374 citations · Full text

Medicine, Maternal Health, Obstetrics +17

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang, Kendra Hoekzema, Davide Vecchio et al. · Nature Communications · 2020 · 215 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

Yu Sun, Claudia Ruivenkamp, Mariëtte J.V. Hoffer et al. · Human Mutation · 2015 · 156 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Aimée L Fenwick, Maciej Kliszczak, Fay Cooper et al. · The American Journal of Human Genetics · 2016 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12